rs727503915

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs727503915(A;A)

Make rs727503915(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

71669208

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs727503915
dbSNP (classic)	rs727503915
ClinGen	rs727503915
ebi	rs727503915
HLI	rs727503915
Exac	rs727503915
Gnomad	rs727503915
Varsome	rs727503915
LitVar	rs727503915
Map	rs727503915
PheGenI	rs727503915
Biobank	rs727503915
1000 genomes	rs727503915
hgdp	rs727503915
ensembl	rs727503915
geneview	rs727503915
scholar	rs727503915
google	rs727503915
pharmgkb	rs727503915
gwascentral	rs727503915
openSNP	rs727503915
23andMe	rs727503915
SNPshot	rs727503915
SNPdbe	rs727503915
MSV3d	rs727503915
GWAS Ctlg	rs727503915

Max Magnitude

0

ClinVar
Risk	rs727503915(A;A)
Alt	rs727503915(A;A)
Reference	Rs727503915(G;G)
Significance	Pathogenic
Disease	not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation	info
Gene	DYSF
CLNDBN	not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed	0
HGVS	NC_000002.11:g.71896338G>A
CLNSRC	HGMD
CLNACC	RCV000153188.2, RCV000178689.1, RCV000407918.1,